Article
Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure.
Alzheimer disease and associated disorders - 1 Jan 2000
Al-Hinti Jomana T, Nagan Narasimhan, Harik Sami I
Abstract excerpt
Few women with Fragile X tremor ataxia syndrome (FXTAS) have been reported. They have milder manifestations at a later age than men. This gender difference may be related to the X inactivation pattern in women. We describe a woman who presented to her geriatrician with poor memory and was found to have ataxia and tremor. Additional queries yielded history of premature ovarian failure. Genetic testing showed...
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